MCID: MTH003
MIFTS: 13

Methylmalonic Aciduria and Homocystinuria Type Cble

Categories: Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria Type Cble

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria Type Cble:

Name: Methylmalonic Aciduria and Homocystinuria Type Cble 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050732

Summaries for Methylmalonic Aciduria and Homocystinuria Type Cble

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria Type Cble is related to methylmalonic aciduria and homocystinuria type cblg and disorders of intracellular cobalamin metabolism. An important gene associated with Methylmalonic Aciduria and Homocystinuria Type Cble is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism.

Related Diseases for Methylmalonic Aciduria and Homocystinuria Type Cble

Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria type cblg 9.6 MTR MTRR
2 disorders of intracellular cobalamin metabolism 9.6 MTR MTRR
3 neural tube defects, folate-sensitive 9.6 MTR MTRR
4 transcobalamin ii deficiency 9.6 MTR MTRR
5 homocysteinemia 9.6 MTR MTRR
6 anencephaly 9.5 MTR MTRR
7 homocystinuria 9.5 MTR MTRR
8 megaloblastic anemia 9.4 MTR MTRR
9 vascular disease 9.3 MTR MTRR
10 neural tube defects 9.2 MTR MTRR
11 trehalase deficiency 9.0 MTR MTRR

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble:



Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria Type Cble

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria Type Cble

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria Type Cble

Genetic Tests for Methylmalonic Aciduria and Homocystinuria Type Cble

Anatomical Context for Methylmalonic Aciduria and Homocystinuria Type Cble

Publications for Methylmalonic Aciduria and Homocystinuria Type Cble

Variations for Methylmalonic Aciduria and Homocystinuria Type Cble

Expression for Methylmalonic Aciduria and Homocystinuria Type Cble

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria Type Cble.

Pathways for Methylmalonic Aciduria and Homocystinuria Type Cble

Pathways related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 MTR MTRR
2
Show member pathways
11.7 MTR MTRR
3
Show member pathways
11.47 MTR MTRR
4
Show member pathways
11.34 MTR MTRR
5
Show member pathways
11.12 MTR MTRR
6 10.28 MTR MTRR
7
Show member pathways
9.23 MTR MTRR

GO Terms for Methylmalonic Aciduria and Homocystinuria Type Cble

Biological processes related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.32 MTR MTRR
2 cellular amino acid biosynthetic process GO:0008652 9.26 MTR MTRR
3 cobalamin metabolic process GO:0009235 9.16 MTR MTRR
4 methionine biosynthetic process GO:0009086 8.96 MTR MTRR
5 sulfur amino acid metabolic process GO:0000096 8.62 MTR MTRR

Sources for Methylmalonic Aciduria and Homocystinuria Type Cble

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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